VHL, von Hippel-Lindau tumor suppressor, 7428

N. diseases: 372; N. variants: 215
Disease: Secondary Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.030 GeneticVariation group BEFREE Overall, the most common mutations in the metastases were VHL (66.8%), PBRM1 (41.87%), and SETD2 (24.7%). 29674707 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.030 GeneticVariation group BEFREE The decreased C12orf59 expression was correlated with lymph node status (P < 0.05), distant metastases (P < 0.05), poor survival (P < 0.001) (HR 3.00; 95% CI, 1.29-7.53), VHL non-sense mutations or frame-shift mutations (P < 0.01), and UMPP gene non-sense mutations or frame-shift mutations (P = 0.01). 26758419 2016
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.030 GeneticVariation group BEFREE Low CAIX expression and absence of VHL mutation were associated with a more advanced tumors e.g., higher T stages and presence of metastases. 18464292 2008